Search Results: 2 unique variants retrieved
c.1001T>C
p.(Ile334Thr) (288)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1001
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
3
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.1002T>G
p.(Ile334Met) (288)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1002
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show